A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003062:Codon / Q000235:genetics; D018031:Connexin 43 / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D006210:Hallermann's Syndrome / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D017880:Limb Deformities, Congenital / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics; D014071:Tooth Abnormalities / Q000235:genetics*
D003062:Codon; D018031:Connexin 43